QuickView for AMACR (gene)

Gene Symbol:

AMACR Homo sapiens

Full name:

alpha-methylacyl-CoA racemase

Synonyms:

AMACRD, CBAS4, P504S, RACE, RM, alpha-methylacyl-CoA racemase, 2-methylacyl-CoA racemase

Genomic Location:

Chr 5: 34023652-34043963

Description:

This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutation...

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This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Bos taurus ,  Danio rerio ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TTTGCAG_MIR518A2 ,  TGTGTGA_MIR377

Cytogenetic Map:

5p13.2

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